Protocadherin 15 (PCDH15) Recombinant Protein

PCDH15: Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function. Defects in PCDH15 are the cause of Usher syndrome type 1F (USH1F). USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in PCDH15 are a cause of Usher syndrome type 1D/F (USH1DF). USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. Defects in PCDH15 are the cause of deafness autosomal recessive type 23 (DFNB23). DFNB23 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion; Cell development/differentiation; Membrane protein, integral

Chromosomal Location of Human Ortholog: 10q21.1

Cellular Component: integral to plasma membrane; photoreceptor outer segment; stereocilium; synapse

Biological Process: cell adhesion; cell-cell signaling; equilibrioception; nervous system development; photoreceptor cell maintenance; sensory perception of light stimulus; sensory perception of sound

Disease: Deafness, Autosomal Recessive 23; Usher Syndrome, Type Id; Usher Syndrome, Type If